List of variants reported as pathogenic for congenital hypogonadotropic hypogonadism by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	rs104893836	0.00234
GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
NM_000515.5(GH1):c.59G>A (p.Trp20Ter)	rs137853219
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter)	rs1805529214
NM_017780.4(CHD7):c.7297del (p.Val2433fs)	rs1064793972
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)	rs587783458
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	rs770374710

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